Canonical Allele Identifier: CA348404326

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128185960A>T (hg19) ; chr2:g.127428384A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428384A>T , CM000664.2:g.127428384A>T	GRCh38
NC_000002.11:g.128185960A>T , CM000664.1:g.128185960A>T	GRCh37
NC_000002.10:g.127902430A>T	NCBI36
NG_016323.1:g.14965A>T , LRG_599:g.14965A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.824A>T MANE Select	ENSP00000234071.4:p.Lys275Met
ENST00000234071.7:c.824A>T	ENSP00000234071.3:p.Lys275Met
ENST00000402125.2:c.148A>T
ENST00000409048.1:c.926A>T	ENSP00000386679.1:p.Lys309Met
NM_000312.3:c.824A>T , LRG_599t1:c.824A>T	NP_000303.1:p.Lys275Met
XM_005263715.3:c.1007A>T	XP_005263772.1:p.Lys336Met
XM_005263716.3:c.989A>T	XP_005263773.1:p.Lys330Met
XM_005263717.3:c.887A>T	XP_005263774.1:p.Lys296Met
XR_923313.1:n.1332-120T>A
XM_005263717.4:c.887A>T	XP_005263774.1:p.Lys296Met
XM_017004505.1:c.1067A>T	XP_016859994.1:p.Lys356Met
XM_024453002.1:c.1169A>T	XP_024308770.1:p.Lys390Met
XM_024453003.1:c.1109A>T	XP_024308771.1:p.Lys370Met
XM_024453004.1:c.1007A>T	XP_024308772.1:p.Lys336Met
XM_024453005.1:c.989A>T	XP_024308773.1:p.Lys330Met
XM_024453006.1:c.926A>T	XP_024308774.1:p.Lys309Met
XR_001739705.1:n.3607-120T>A
XR_923313.2:n.4043-120T>A
NM_000312.4:c.824A>T MANE Select	NP_000303.1:p.Lys275Met
NM_001375602.1:c.1007A>T	NP_001362531.1:p.Lys336Met
NM_001375603.1:c.989A>T	NP_001362532.1:p.Lys330Met
NM_001375604.1:c.887A>T	NP_001362533.1:p.Lys296Met
NM_001375605.1:c.926A>T	NP_001362534.1:p.Lys309Met
NM_001375606.1:c.992A>T	NP_001362535.1:p.Lys331Met
NM_001375607.1:c.1010A>T	NP_001362536.1:p.Lys337Met
NM_001375608.1:c.767A>T	NP_001362537.1:p.Lys256Met
NM_001375609.1:c.800A>T	NP_001362538.1:p.Lys267Met
NM_001375610.1:c.818A>T	NP_001362539.1:p.Lys273Met
NM_001375611.1:c.824A>T	NP_001362540.1:p.Lys275Met
NM_001375613.1:c.824A>T	NP_001362542.1:p.Lys275Met